HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583602G= , CM000679.2:g.41583602G= | GRCh38 |
NC_000017.10:g.39739854G= , CM000679.1:g.39739854G= | GRCh37 |
NC_000017.9:g.36993380G= | NCBI36 |
NG_008624.1:g.8294C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.1002C= MANE Select | ENSP00000167586.6:p.Leu334= | |
ENST00000167586.6:c.1002C= | ENSP00000167586.6:p.Leu334= | |
ENST00000476662.1:n.452C= | ||
NM_000526.4:c.1002C= | NP_000517.2:p.Leu334= | |
NM_000526.5:c.1002C= MANE Select | NP_000517.3:p.Leu334= |